Familial thyroid dyshormonogenesis
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Thyroid dyshormonogenesis |
| Number of Symptoms | 21 |
| OrphanetNr: | 95716 |
| OMIM Id: |
274400
274500 274700 274800 274900 607200 |
| ICD-10: |
E03.0 E03.1 |
| UMLs: |
|
| MeSH: |
|
| MedDRA: |
|
| Snomed: |
|
Prevalence, inheritance and age of onset:
| Prevalence: | 4 of 100 000 [Orphanet] |
| Inheritance: |
|
| Age of onset: |
|
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Primary congenital hypothyroidism without thyroid developmental anomaly
-Rare endocrine disease -Rare genetic disease |
Symptom Information:
|
|
(HPO:0000239) | Large fontanelles | Very frequent [Orphanet] | 135 / 7739 | |||
|
|
(HPO:0000158) | Macroglossia | Very frequent [Orphanet] | 119 / 7739 | |||
|
|
(HPO:0000280) | Coarse facial features | Very frequent [Orphanet] | 189 / 7739 | |||
|
|
(HPO:0000271) | Abnormality of the face | Very frequent [Orphanet] | 108 / 7739 | |||
|
|
(HPO:0001254) | Lethargy | 104 / 7739 | ||||
|
|
(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
|
|
(HPO:0002360) | Sleep disturbance | Very frequent [Orphanet] | 113 / 7739 | |||
|
|
(HPO:0000853) | Goiter | Frequent [Orphanet] | 39 / 7739 | |||
|
|
(HPO:0000821) | Hypothyroidism | Very frequent [Orphanet] | 141 / 7739 | |||
|
|
(HPO:0001396) | Cholestasis | Very frequent [Orphanet] | 136 / 7739 | |||
|
|
(HPO:0002019) | Constipation | Very frequent [Orphanet] | 194 / 7739 | |||
|
|
(HPO:0001537) | Umbilical hernia | Very frequent [Orphanet] | 206 / 7739 | |||
|
|
(HPO:0010318) | Aplasia/Hypoplasia of the abdominal wall musculature | Very frequent [Orphanet] | 55 / 7739 | |||
|
|
(HPO:0004322) | Short stature | Frequent [Orphanet] | 1232 / 7739 | |||
|
|
(HPO:0004325) | Decreased body weight | Very frequent [Orphanet] | 492 / 7739 | |||
|
|
(HPO:0001510) | Growth delay | 295 / 7739 | ||||
|
|
(HPO:0000958) | Dry skin | 152 / 7739 | ||||
|
|
(HPO:0001324) | Muscle weakness | Very frequent [Orphanet] | 859 / 7739 | |||
|
|
(HPO:0001252) | Muscular hypotonia | Very frequent [Orphanet] | 990 / 7739 | |||
|
|
(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
|
|
(HPO:0012758) | Neurodevelopmental delay | Frequent [Orphanet] | 949 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|